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Worldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
View Article and Find Full Text PDFAudiologic Outcomes After Cochlear Implantation in Prelingually Deaf Children Who Have Combined Anomalies or Disabilities.
Otol Neurotol
January 2025
Department of Otorhinolaryngology, Head & Neck Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Objective: To evaluate the audiologic outcomes after cochlear implantation (CI) in prelingually deaf children with comorbid disorders.
Study Design: Retrospective study.
Setting: Tertiary care academic center.
Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.
Ear Nose Throat J
December 2024
Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India.
Congenital depigmentation may be associated with congenital sensorineural hearing loss leading to non-development of verbal speech. To illustrate the clinical features and work-up of 3 children diagnosed with auditory pigmentary disorders (APDs). Case series with a review of the literature.
View Article and Find Full Text PDFComparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
Appl Clin Genet
November 2024
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.
Article Synopsis
- Syndromic hearing loss (SHL) involves diverse genetic causes, with over 400 types identified, primarily following an autosomal dominant inheritance pattern.
- A study analyzed 14 patients (ages 5-78 months) with various syndromes associated with SHL, discovering ten new genetic variants and confirming cases of well-known syndromes like Waardenburg and CHARGE.
- Results suggest that combining neonatal hearing screenings with whole exome sequencing can effectively diagnose SHL early, highlighting the need for thorough monitoring of patients due to the complexity and variability of SHL symptoms.
Case of sapphire eyes with hearing loss: Waardenburg syndrome type 1 in a young girl.
Arch Dis Child
October 2024
Department of Dermatology and Venereology, Maulana Azad Medical College, New Delhi, Delhi, India.
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